ATPAF2
Protein-coding gene in the species Homo sapiens / From Wikipedia, the free encyclopedia
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ATP synthase mitochondrial F1 complex assembly factor 2 is an enzyme that in humans is encoded by the ATPAF2 gene.[5][6][7]
ATPAF2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | ATPAF2, ATP12, ATP12p, MC5DN1, LP3663, ATP synthase mitochondrial F1 complex assembly factor 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 608918 MGI: 2180561 HomoloGene: 34602 GeneCards: ATPAF2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent the subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith–Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined.[7] A mutation in this gene has caused nuclear type 1 Complex V deficiency, characterized by lactic acidosis, encephalopathy, and developmental delays.[8][9]